What is the prevalence of Arginase Deficiency/Argininemia?
How many people does Arginase Deficiency/Argininemia affect? Does it have the same prevalence in men and women? And in the different countries?
Arginase Deficiency/Argininemia is a rare autosomal recessive disorder characterized by the body's inability to break down the amino acid arginine. It is caused by mutations in the ARG1 gene. The prevalence of this condition is estimated to be approximately 1 in 1,000,000 individuals worldwide. Symptoms may include intellectual disability, developmental delay, seizures, and progressive spasticity. Early diagnosis and management are crucial to prevent complications. Treatment involves a low-protein diet and arginine supplementation. Genetic counseling is recommended for families affected by this condition.
Arginase Deficiency/Argininemia is a rare autosomal recessive disorder that affects the urea cycle, a metabolic pathway responsible for removing ammonia from the body. This condition is caused by a deficiency of the enzyme arginase, which leads to the accumulation of toxic levels of arginine in the blood.
The prevalence of Arginase Deficiency is estimated to be approximately 1 in 1,000,000 individuals worldwide. It is considered one of the rarest urea cycle disorders. The condition has been reported in various ethnic groups, including individuals of European, African, and Asian descent.
Arginase Deficiency can present with a wide range of symptoms, including intellectual disability, developmental delay, seizures, spasticity, and growth retardation. The severity of the symptoms can vary widely among affected individuals.
Early diagnosis and treatment are crucial for managing Arginase Deficiency. Treatment typically involves a low-protein diet, arginine restriction, and the use of specific medications to manage symptoms and prevent complications.
Research and advancements in genetic testing have contributed to a better understanding of this rare disorder, allowing for improved diagnosis and management strategies.
